oculocutaan albinisme
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oculocutaan albinisme type 1 (aandoening)
oculocutaan albinisme type 1
OCA1
Oculocutaneous albinism type 1
TYR-gene related oculocutaneous albinism type 1
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).
Id765146000
StatusPrimitive
Associated morphologyverminderde melaninepigmentatie
Finding sitestructuur van bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyverminderde melaninepigmentatie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map352731
SNOMED CT to ICD-10 extended map
TargetE70.3
RuleTRUE
AdviceALWAYS E70.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified